Lv1
64 积分 2022-03-03 加入
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
3天前
已完结
Influence of the Extent of Myopia on the Progression of Normal-Tension Glaucoma
3天前
已完结
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients
8天前
已完结
Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology
10天前
已关闭
Clinical and genetic investigation of 14 families with various forms of short stature syndromes
11天前
已完结
Identification of mutations in five Pakistani families with Epilepsy
15天前
已完结
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
16天前
已完结
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
16天前
已完结
Unmasking the challenges of Kabuki syndrome in adulthood: A case series
16天前
已完结
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital
16天前
已完结
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